Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| ABCA3 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ATP-BINDING CASSETTE TRANSPORTER 3) |
601615 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3
» PULMONARY ALVEOLAR PROTEINOSIS DUE TO ABCA3 DEFICIENCY
» INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY |
610921 |
|
2000 |
| ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3) |
171060 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3
» MDR3 DEFICIENCY
» CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE |
602347 |
|
2200 |
| ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) |
607809 |
ALPHA-METHYLACETOACETIC ACIDURIA
» BETA-KETOTHIOLASE DEFICIENCY
» MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
» 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA |
254210 |
|
1100 |
| ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) |
102620 |
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 |
611788 |
|
880 |
ALBINISM PANEL:
- OCA1
- OCA2
-
OCA3
-
OCA4
-
OA1 |
606933
203200
203290
606574
300500 |
ALBINISM |
|
|
1700 |
| ALDH7A1 (ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE) |
107323 |
EPILEPSY, PYRIDOXINE-DEPENDENT, EPD
» AASA DEHYDROGENASE DEFICIENCY |
266100 |
|
1000 |
APP |
104760 |
ALZHEIMER
DEMENTIA, EARLY-ONSET, TYPE 1, AD1 |
104300 |
Deletion-Duplication |
600 |
CEREBRAL
AMYLOID ANGIOPATHY
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS 6
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY |
105150 |
Deletion-Duplication |
600 |
| ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) |
607574 |
METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY |
250100 |
Deletion-Duplication |
600 |
| PSEUDOARYLSULFATASE A DEFICIENCY |
250100 |
Deletion-Duplication |
600 |
| ARSE (ARYLSULFATASE E) |
300180 |
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC |
302950 |
|
1100 |
| ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINASE) |
608310 |
ARGININOSUCCINIC ACIDURIA
» ARGININOSUCCINASE DEFICIENCY
» ARGININOSUCCINATE LYASE DEFICIENCY
» ASL DEFICIENCY |
207900 |
|
1400 |
| B3GALTL (UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE, BETA-1,3-GLUCOSYLTRANSFERASE) |
610308 |
PETERS-PLUS SYNDROME
» KRAUSE-KIVLIN SYNDROME
» PETERS ANOMALY WITH SHORT-LIMB DWARFISM |
261540 |
|
2200 |
BCKDHB (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE)
|
248611 |
MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO |
248600 |
|
1250 |
CDH1 (CADHERIN 1, UVOMORULIN)
|
192090 |
GASTRIC CANCER, FAMILIAL DIFFUSE |
137215 |
Deletion-Duplication |
600 |
| CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE |
192090 |
Deletion-Duplication |
600 |
| CANCER (SOMATIC MUTATIOS) |
. |
Deletion-Duplication |
600 |
| CDK4 |
123829 |
MALIGNANT MELANOMA, CMM3 |
609048 |
Whole Gene |
800 |
| CHAT (CHOLINE ACETYLTRANSFERASE) |
118490 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2 |
254210 |
|
1050 |
| CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT) |
118502 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
» EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR |
610353 |
|
1250 |
| CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2) |
118507 |
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 |
605375 |
|
1250 |
| CLCN7 |
602727 |
OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2
» ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)
» MARBLE BONES (AUTOSOMAL DOMINANT)
» OSTEOSCLEROSIS FRAGILIS GENERALISATA |
166600 |
|
1600 |
OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4
» OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2 |
611490 |
|
1600 |
| COL4A1 |
120130 |
PORENCEPHALY, FAMILIAL
» HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY |
175780 |
Whole Gene or Deletion-Duplication |
Whole Gene: 3500
Deletion-Duplication: 800 |
| ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC |
611773 |
Whole Gene or Deletion-Duplication |
Whole Gene: 3500
Deletion-Duplication: 800 |
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY |
607595 |
Whole Gene or Deletion-Duplication |
Whole Gene: 3500
Deletion-Duplication: 800 |
| COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) |
603033 |
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
» ENGEL CONGENITAL MYASTHENIC SYNDROME
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1C |
603034 |
|
1050 |
| COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) |
609825 |
COENZYME Q10 DEFICIENCY |
607426 |
|
650 |
| CPO (COPROPORPHYRINOGEN OXIDASE) |
121300 |
COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA |
121300 |
|
600 |
| CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) |
608307 |
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY |
237300 |
|
2500 |
| CPT1B (CARNITINE PALMITOYLTRANSFERASE I, MUSCLE) |
601987 |
NO DISEASE |
. |
|
1600 |
| CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) |
604927 |
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN |
604168 |
1 Mutation: IVS6, C-T, +389 |
250 |
| CTRC (CHYMOTRYPSIN C, CALDECRIN) |
601405 |
HEREDITARY PANCREATITIS |
167800 |
|
800 |
| DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) |
248610 |
MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO |
248600 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1600
Deletion-Duplication: 600 |
| DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO ACID DECARBOXYLASE; AADC) |
107930 |
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
» AADC DEFICIENCY
» DOPA DECARBOXYLASE DEFICIENCY |
608643 |
|
1110 |
| DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK) |
601465 |
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM |
251880 |
|
600 |
| DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) |
600980 |
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)
» HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE) |
241520 |
|
1000 |
| DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) |
603335 |
KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME |
244400 |
All 61 known Mutations in DNAH5 and DNAI1 |
800 |
PRIMARY CILIARY DYSKINESIA, TYPE 3
» IMMOTILE CILIA SYNDROME |
608644 |
All 61 known Mutations in DNAH5 and DNAI1 |
800 |
| DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1) |
604366 |
KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME |
244400 |
All 61 known Mutations in DNAH5 and DNAI1 |
800 |
PRIMARY CILIARY DYSKINESIA, TYPE 3
» IMMOTILE CILIA SYNDROME |
608644 |
All 61 known Mutations in DNAH5 and DNAI1 |
800 |
| DNASE1 (DEOXYRIBONUCLEASE 1; DNase 1, LYSOSOMAL) |
125505 |
SYSTEMIC LUPUS ERYTHEMATOSUS |
152700 |
|
1600 |
| DNM2 (DYNAMIN 2, DYN2) |
602378 |
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) |
606482 |
|
1550 |
| MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) |
160150 |
|
1550 |
| DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) |
610285 |
MYASTHENIA, LIMB-GIRDLE, FAMILIAL
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1B |
254300 |
|
750 |
| DSC2 (DESMOCOLLIN 2, DESMOSOMAL GLYCOPROTEIN 2/3) |
125645 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11 |
610476 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
950 |
| DSG2 (DESMOGLEIN 2) |
125671 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10 |
610193 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
900 |
| DSP (DESMOPLAKIN) |
125647 |
KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 |
125647 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
500 |
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
» CARVAJAL SYNDROME |
605676 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
500 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 8, ARVC8 |
607450 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
500 |
| SKIN FRAGILITY-WOOLLY HAIR SYNDROME |
607655 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
500 |
| EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC |
609638 |
See also PKP2, DSP, DSG2, DSC2 PANEL |
500 |
| EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) |
606603 |
ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3 |
129490 |
|
1600 |
HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE)
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE) |
224900 |
|
1600 |
| EDNRB (ENDOTHELIN RECEPTOR, TYPE B) |
131244 |
WAARDENBURG-SHAH SYNDROME
» WAARDENBURG SYNDROME, TYPE 4
» WAARDENBURG-HIRSCHSPRUNG DISEASE |
277580 |
|
450 |
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 |
600155 |
|
450 |
ABCD SYNDROME
» ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS |
600501 |
|
450 |
| EIF2B1 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1) |
606686 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY |
603896 |
|
520 |
| EIF2B2 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2) |
606454 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY |
603896 |
|
520 |
| EIF2B3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3) |
606273 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY |
603896 |
|
520 |
| EIF2B4 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4) |
606687 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY |
603896 |
|
520 |
| EIF2B5 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5) |
603945 |
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY |
603896 |
|
520 |
| ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE) |
608053 |
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY |
231680 |
|
650 |
| ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE) |
130410 |
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY |
231680 |
|
400 |
| ETFDH (ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE) |
231675 |
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY |
231680 |
|
700 |
| F8 (FACTOR 8) |
306700 |
HAEMOPHILIA A |
306700 |
Intron 1 Inversion |
300 |
| FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A) |
300708 |
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
» STAR SYNDROME
» SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS |
300707 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1250
Deletion-Duplication: 600 |
| FECH (FERROCHELATASE) |
177000 |
PROTOPORPHYRIA, ERYTHROPOIETIC
» HEME SYNTHETASE DEFICIENCY
» FERROCHELATASE DEFICIENCY |
177000 |
|
600 |
FLG (FILAGGRIN,
PROFILAGGRIN)
|
135940 |
ICHTHYOSIS
VULGARIS
» ICHTHYOSIS
SIMPLEX |
146700 |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
800 |
| ATOPIC DERMATITIS |
. |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
800 |
| ASTHMA |
. |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
800 |
| FOXG1 (FORKHEAD BOX G1; BRAIN FACTOR 1) |
164874 |
RETT SYNDROME, CONGENITAL VARIANT |
164874 |
|
800 |
| FOXP2 (FORKHEAD BOX P2; TRINUCLEOTIDE REPEAT-CONTAINING GENE 10) |
605317 |
SPEECH-LANGUAGE DISORDER, TYPE 1
» DEVELOPMENTAL VERBAL DYSPRAXIA
» SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA |
602081 |
|
1700 |
| FSHR (FOLLICLE-STIMULATING HORMONE RECEPTOR; FSH RECEPTOR; OVARIAN HYPERSTIMULATION SYNDROME, MODERATOR OF SEVERITY OF) |
136435 |
OVARIAN DYSGENESIS TYPE 1, ODG1
» GONADAL DYSGENESIS, XX TYPE
» OVARIAN DYSGENESIS, HYPERGONADOTROPIC (AUTOSOMAL RECESSIVE) |
233300 |
|
1600 |
| GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N-ACETYLGALACTOSAMINE-SULFATE SULFATASE) |
612222 |
MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A
» MORQUIO SYNDROME A
» GALACTOSAMINE-6-SULFATASE DEFICIENCY |
253000 |
Whole Gene or Deletion-Duplication |
Whole Gene: 2000
Deletion-Duplication: 600 |
| GAMT (GUANIDINOACETATE METHYLTRANSFERASE) |
601240 |
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
» GAMT DEFICIENCY
» CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY |
601240 |
|
700 |
| GAN (GAN GENE, GIGAXONIN) |
605379 |
GIANT AXONAL NEUROPATHY 1
» NEUROPATHY, GIANT AXONAL (AUTOSOMAL RECESSIVE) |
256850 |
|
850 |
| GATA4 (GATA-BINDING PROTEIN 4) |
600576 |
ATRIAL SEPTAL DEFECT, TYPE 2 |
607941 |
|
1250 |
| GBE1 (GLYCOGEN BRANCHING ENZYME) |
607839 |
GLYCOGEN STORAGE DISEASE, TYPE 4
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
» GLYCOGENOSIS 4
» AMYLOPECTINOSIS |
232500 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1250
Deletion-Duplication: 600 |
| GCSH (GLYCINE CLEAVAGE SYSTEM H PROTEIN) |
238330 |
NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY |
605899 |
|
400 |
| GJC2 (GAP JUNCTION PROTEIN, GAMMA-2; GJA12; CONNEXIN 47; CONNEXIN 46.6) |
608803 |
PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE 1 (AUTOSOMAL RECESSIVE) |
608804 |
|
500 |
| GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) |
611458 |
GM1-GANGLIOSIDOSIS, TYPE 1
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 |
230500 |
|
1600 |
GM1-GANGLIOSIDOSIS, TYPE 2
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 |
230600 |
|
1600 |
GM1-GANGLIOSIDOSIS, TYPE 3
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3 |
230650 |
|
1600 |
MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B
» MORQUIO SYNDROME B |
253010 |
|
1600 |
| GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
165240 |
PALLISTER-HALL SYNDROME
» HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY |
146510 |
Whole Gene |
1700 |
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
» POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE |
175700 |
Whole Gene |
1700 |
| POLYDACTYLY, POSTAXIAL, TYPE A1 |
174200 |
Whole Gene |
1700 |
POLYDACTYLY, PREAXIAL 4
» POLYSYNDACTYLY, UNCOMPLICATED CROSSED
» POLYDACTYLY, TYPE 1 |
174700 |
Whole Gene |
1700 |
ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME |
200990 |
Whole Gene |
1700 |
| GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) |
607840 |
MUCOLIPIDOSIS, TYPE 2, ML2
» I-CELL DISEASE |
252500 |
|
2400 |
MUCOLIPIDOSIS, TYPE 3, ML3
» PSEUDO-HURLER POLYDYSTROPHY |
252600 |
|
2400 |
| GNS (N-ACETYLGLUCOSAMINE-6-SULFATASE; GLUCOSAMINE-6-SULFATASE) |
607664 |
MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D
» SANFILIPPO SYNDROME D
» N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY |
252940 |
|
2000 |
| GPR56 (G PROTEIN-COUPLED RECEPTOR 56, TM7XN1) |
604110 |
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
» CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT |
606854 |
|
1000 |
| HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
600890 |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY |
609016 |
2 Common Mutations: (1528G>C and 1132C>T) |
300 |
| NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN DEFICIENCY |
|
2 Common Mutations: (1528G>C and 1132C>T) |
300 |
| TRIFUNCTIONAL PROTEIN DEFICIENCY |
609015 |
2 Common Mutations: (1528G>C and 1132C>T) |
1200 |
| HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN 76; TMEM76) |
610453 |
MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C
» SANFILIPPO SYNDROME C
» ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY |
252930 |
Whole Gene or Deletion-Duplication |
Whole Gene: 2200
Deletion-Duplication: 600 |
| HLCS (HOLOCARBOXYLASE SYNTHETASE; HCS) |
609018 |
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
» HLCS DEFICIENCY |
253270 |
|
790 |
HPS1 |
604982 |
HERMANSKY-PUDLAK SYNDROME |
203300 |
Whole Gene |
1200 |
| HPS4 |
606682 |
HERMANSKY-PUDLAK SYNDROME |
203300 |
Whole Gene |
1200 |
| HR (HAIRLESS, MOUSE, HOMOLOG OF) |
602302 |
ALOPECIA UNIVERSALIS CONGENITA
» ATRICHIA, GENERALIZED |
203655 |
|
1800 |
ATRICHIA WITH PAPULAR LESIONS
» PAPULAR ATRICHIA |
209500 |
|
1800 |
| IDUA (ALPHA-L-IDURONIDASE) |
252800 |
MUCOPOLYSACCHARIDOSIS, TYPE IH
» HURLER SYNDROME |
607014 |
|
2000 |
MUCOPOLYSACCHARIDOSIS, TYPE 5, MPS5
» SCHEIE SYNDROME |
607016 |
|
2000 |
MUCOPOLYSACCHARIDOSIS, TYPE IH/S
» HURLER-SCHEIE SYNDROME |
607015 |
|
2000 |
| INS (INSULIN, PROINSULIN) |
176730 |
HYPERPROINSULINEMIA
» HYPERINSULINEMIA |
176730 |
|
350 |
| IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4) |
606883 |
IRAK4 DEFICIENCY |
607676 |
|
1300 |
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1
» INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST |
610799 |
|
1300 |
| JAK2 (JANUS KINASE 2) |
147796 |
POLYCYTHEMIA VERA |
263300 |
Exon 12, including V617F Mutation |
250 |
THROMBOCYTHEMIA, ESSENTIAL
» THROMBOCYTOSIS (AUTOSOMAL DOMINANT) |
187950 |
Exon 12, including V617F Mutation |
250 |
| MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED |
254450 |
Exon 12, including V617F Mutation |
250 |
BUDD-CHIARI SYNDROME
» MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA |
600880 |
Exon 12, including V617F Mutation |
250 |
| KCNV2 (POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY 5, MEMBER 2) |
607604 |
RETINAL CONE DYSTROPHY, TYPE 3B
» CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED |
610356 |
|
1000 |
| MCEE (METHYLMALONYL-CoA EPIMERASE; METHYLMALONYL-CoA RACEMASE) |
608419 |
METHYLMALONYL-CoA EPIMERASE DEFICIENCY
» METHYLMALONIC ACIDURIA, TYPE 3 |
251120 |
|
300 |
| MED12 (MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF; TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT) |
300188 |
OPITZ-KAVEGGIA SYNDROME
» FG SYNDROME
» MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM |
305450 |
Exon 21 including the R961W Mutation |
900 |
| MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH FACTOR RECEPTOR) |
164860 |
RENAL CELL CARCINOMA, PAPILLARY |
605074 |
|
2200 |
| HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE |
|
|
2200 |
| MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; THROMBOPOIETIN RECEPTOR; TPOR) |
159530 |
THROMBOCYTHEMIA, ESSENTIAL
» THROMBOCYTOSIS (AUTOSOMAL DOMINANT) |
187950 |
Exon 10, including W515L Mutation |
250 |
| MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED |
254450 |
Exon 10, including W515L Mutation |
250 |
| MPV17 (MPV17, MOUSE, HOMOLOG OF) |
137960 |
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM |
251880 |
|
450 |
| NAGS (N-ACETYLGLUTAMATE SYNTHASE) |
608300 |
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
» HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY |
237310 |
|
680 |
| NBS1 (NIBRIN) |
602667 |
NIJMEGEN BREAKAGE SYNDROME, NBS
» SEEMANOVA SYNDROME, TYPE 2
» ATAXIA-TELANGIECTASIA VARIANT
» MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
» BERLIN BREAKAGE SYNDROME |
251260 |
Exon 6, including 657del5 Mutation |
250 |
| LEUKEMIA, ACUTE LYMPHOBLASTIC |
|
Exon 6, including 657del5 Mutation |
250 |
| NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; PROTEIN REGULATED BY OXYGEN 1; PROXY1) |
605262 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D
» NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL) |
601455 |
|
1100 |
| NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN) |
300275 |
CHILD SYNDROME
» CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
» ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
|
308050 |
|
1000 |
| OPHN1 (OLIGOPHRENIN 1, OPN1) |
300127 |
MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED)
» MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60 |
300486 |
|
1500 |
| OXCT1 (3-@OXOACID CoA TRANSFERASE 1; SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE; SCOT) |
118490 |
SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY
» SCOT DEFICIENCY
» SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY
» SUCCINYL-CoA:ACETOACETATE TRANSFERASE DEFICIENCY |
254210 |
|
1400 |
| PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) |
607429 |
COENZYME Q10 DEFICIENCY |
607426 |
|
800 |
| PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) |
610564 |
COENZYME Q10 DEFICIENCY |
607426 |
|
650 |
| PHKB (PHOSPHORYLASE KINASE, BETA SUBUNIT) |
172490 |
GLYCOGEN STORAGE DISEASE, TYPE 9B
» PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE (AUTOSOMAL RECESSIVE) |
261750 |
|
2200 |
| PKP2, DSP, DSG2, DSC2 PANEL |
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL |
|
|
1600 |
| PLCE1 (PHOSPHOLIPASE C, EPSILON-1) |
608414 |
NEPHROTIC SYNDROME, TYPE 3 |
610725 |
|
1400 |
| PLOD2 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; LYSINE HYDROXYLASE 2) |
601865 |
BRUCK SYNDROME, TYPE 2 |
609220 |
|
2400 |
| POLG2 (POLYMERASE, DNA, GAMMA-2; POLGB) |
604983 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 4 |
610131 |
|
650 |
| PORCN (PORCUPINE, DROSOPHILA, HOMOLOG OF) |
300651 |
FOCAL DERMAL HYPOPLASIA
» GOLTZ SYNDROME
» GOLTZ-GORLIN SYNDROME |
305600 |
|
1100 |
| PPOX (PROTOPORPHYRINOGEN OXIDASE) |
600923 |
PORPHYRIA VARIEGATA
» PROTOPORPHYRINOGEN OXIDASE DEFICIENCY
» PORPHYRIA, SOUTH AFRICAN TYPE |
176200 |
|
600 |
| PROK2 (PROKINETICIN 2) |
607002 |
KALLMANN SYNDROME, TYPE 4, KAL4
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4 |
610628 |
|
800 |
| PROKR2 (PROKINETICIN RECEPTOR 2; G PROTEIN-COUPLED RECEPTOR 73-LIKE 1) |
607123 |
KALLMANN SYNDROME, TYPE 3, KAL3
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3 |
244200 |
|
1000 |
| PRPF31 (PRP31, PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF) |
606419 |
RETINITIS PIGMENTOSA 11, RP11 |
600138 |
|
700 |
| REEP1 (RECEPTOR EXPRESSION-ENHANCING PROTEIN 1) |
609139 |
SPASTIC PARAPLEGIA 31, SPG31 (AUTOSOMAL DOMINANT) |
610250 |
|
900 |
| RRM2B (RIBONUCLEOTIDE REDUCTASE, M2 B; RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2) |
604712 |
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY |
612075 |
|
700 |
| SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, BETA SUBUNIT) |
600235 |
GENERALIZED
EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE
2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES |
604233 |
|
2100 |
| SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, ALPHA SUBUNIT) |
182390 |
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
» EPILEPSY, BENIGN NEONATAL-INFANTILE |
607745 |
|
2200 |
GENERALIZED
EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE
2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES |
604233 |
|
2200 |
| SFTPC (SURFACTANT PULMONARY-ASSOCIATED PROTEIN C) |
178620 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 2, SMDP2
» PULMONARY ALVEOLAR PROTEINOSIS DUE TO SURFACTANT PROTEIN C DEFICIENCY |
610913 |
|
650 |
| SIX1 |
601205 |
BRANCHIOOTIC SYNDROME, TYPE 3
» BO SYNDROME, TYPE 3 |
608389 |
|
500 |
| DEAFNESS 23, DFNA23 (AUTOSOMAL DOMINANT) |
605192 |
|
500 |
| SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER) |
138140 |
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
» GLUT1 DEFICIENCY SYNDROME |
606777 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
| SLC6A3 (SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; DOPAMINE TRANSPORTER; DAT1) |
126455 |
TOBACCO ADDICTION, SUSCEPTIBILITY TO
» NICOTINE DEPENDENCE, SUSCEPTIBILITY TO |
188890 |
|
1110 |
| SLC9A6 (SOLUTE CARRIER FAMILY 9, ISOFORM A6) |
300231 |
MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE
» MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME
» ANGELMAN-LIKE SYNDROME (X-LINKED)
|
300243 |
|
1200 |
| SLC16A2 (SOLUTE CARRIER FAMILY 16, MEMBER 2; MONOCARBOXYLATE TRANSPORTER 8; MCT8) |
300095 |
ALLAN-HERNDON-DUDLEY SYNDROME
» MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
» MENTAL RETARDATION WITH HYPOTONIA (X-LINKED) |
300523 |
|
1100 |
| SLC19A2 (SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; THIAMINE TRANSPORTER PROTEIN 1) |
603941 |
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TRMA
» ROGERS SYNDROME
» THIAMINE-RESPONSIVE MYELODYSPLASIA
» MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS |
249270 |
|
500 |
| SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) |
603859 |
CITRULLINEMIA, TYPE 2, ADULT-ONSET |
603471 |
|
1200 |
CITRULLINEMIA, TYPE 2, NEONATAL-ONSET
» CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY |
605814 |
|
1200 |
| SOX10 (SRY-BOX 10) |
602229 |
WAARDENBURG-SHAH SYNDROME
» WAARDENBURG SYNDROME, TYPE 4
» WAARDENBURG-HIRSCHSPRUNG DISEASE |
277580 |
|
400 |
| YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME |
601706 |
|
400 |
WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
» PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE |
609136 |
|
400 |
| WAARDENBURG SYNDROME, TYPE 2E |
611584 |
|
400 |
| SPR (SEPIAPTERIN REDUCTASE) |
182125 |
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
» SEPIAPTERIN REDUCTASE DEFICIENCY |
182125 |
|
400 |
| SPRED1 (SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1) |
609291 |
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME |
611431 |
|
500 |
| STAT (SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; ACUTE-PHASE RESPONSE FACTOR;) |
102582 |
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)
» JOB SYNDROME
» HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT) |
147060 |
Common Mutations: Exons 13, 14, 15, 16, 20 and 21 |
800 |
| SUCLA2 (SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT) |
603921 |
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA |
612073 |
|
650 |
| SUCLG1 (SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1) |
611224 |
LACTIC ACIDOSIS, FATAL INFANTILE |
245400 |
|
650 |
| TAR DELETION |
274000 |
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
» TAR SYNDROME
» TETRAPHOCOMELIA-THROMBOCYTOPENIA SYNDROME |
274000 |
|
600 |
| TG (SIMPLE, THYROGLOBULIN) |
188450 |
GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)
» GOITER, NONENDEMIC SIMPLE
» GOITER, ADENOMATOUS
» AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO |
188450 |
|
300 |
| TH (TYROSINE HYDROXYLASE) |
191290 |
SEGAWA SYNDROME (AUTOSOMAL RECESSIVE)
» TYROSINE HYDROXYLASE DEFICIENCY
» DOPA-RESPONSIVE DYSTONIA (AUTOSOMAL RECESSIVE)
» PARKINSONISM, INFANTILE (AUTOSOMAL RECESSIVE) |
605407 |
|
1150 |
| TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) |
300356 |
MOHR-TRANEBJAERG SYNDROME
» DYSTONIA-DEAFNESS SYNDROME
» DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME
» DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY |
304700 |
|
400 |
JENSEN SYNDROME
» OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA |
311150 |
|
400 |
| TK2 (THYMIDINE KINASE, MITOCHONDRIAL) |
188250 |
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
» MITOCHONDRIAL DNA DEPLETION MYOPATHY |
609560 |
|
770 |
| TP73L (TUMOR PROTEIN p73-LIKE) |
603273 |
ECTRODACTYLY-ECTODERMAL
DYSPLASIA-CLEFTING, TYPE 1, EEC1
» ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 1 |
129900 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
ECTRODACTYLY-ECTODERMAL
DYSPLASIA-CLEFTING, TYPE 3, EEC3
» ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 3 |
604292 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
SPLIT
HAND - SPLIT FOOT, TYPE 4, SHFM4 |
605289 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
ANKYLOBLEPHARON-ECTODERMAL
DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME |
106260 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH
SYNDROME
» ADULT SYNDROME |
103285 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
LIMB-MAMMARY
SYNDROME |
603543 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
» RAPP-HODGKIN SYNDROME |
129400 |
Whole Gene or Deletion-Duplication |
Whole Gene: 1500
Deletion-Duplication: 600 |
| TRPM6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;CHANNEL KINASE 2; CHAK2 MELASTATIN-RELATED TRP CATION CHANNEL 6) |
300095 |
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
» HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA |
300523 |
|
1700 |
| TSFM (Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL) |
604723 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3
» ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS |
610505 |
|
500 |
| TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) |
115501 |
OCULOCUTANEOUS
ALBINISM, TYPE 3, OCA3 |
203290 |
|
700 |
| ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA |
278400 |
|
700 |
| UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) |
300298 |
MENTAL RETARDATION SYNDROMIC (X-LINKED), TYPE 14, MRXS14 |
300676 |
|
1500 |
| OPITZ-KAVEGGIA SYNDROME |
305450 |
|
1500 |
| LUJAN-FRYNS SYNDROME |
309520 |
|
1500 |
| UROD (UROPORPHYRINOGEN DECARBOXYLASE) |
176100 |
PORPHYRIA CUTANEA TARDA
» PORPHYRIA, HEPATOCUTANEOUS TYPE
» UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY |
176100 |
|
600 |
| UROS (UROPORPHYRINOGEN 3 SYNTHASE) |
606938 |
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
» UROPORPHYRINOGEN 3 SYNTHASE, DEFICIENCY OF |
263700 |
|
600 |
| WHOLE MITOCHONDRIAL GENOME |
|
MITOCHONDRIAL DISEASE |
|
Complete Mitochondrial DNA Sequencing |
2500 |
